Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.
|
17955389 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
The Aldo2(-/-) homozygous mice show similar pathology following exposure to fructose as humans with HFI such as failure to thrive, liver dysfunction, and potential morbidity.
|
25637246 |
2015 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The presented data also emphasize the usefulness of ALDOB mutation screening for diagnosis of HFI.
|
17457694 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
AlteredExpression
|
disease |
BEFREE |
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB).
|
15532022 |
2004 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
18541450 |
2008 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
15880727 |
2005 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
|
12417303 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
18541450 |
2008 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
|
12417303 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Hereditary fructose intolerance in Brazilian patients.
|
26937407 |
2015 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
|
23430936 |
2012 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
|
8071980 |
1994 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
|
17955389 |
2007 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in Turkish patients with hereditary fructose intolerance.
|
11757579 |
2001 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
|
8096362 |
1993 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB).
|
15532022 |
2004 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
|
2336380 |
1990 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia.
|
2336380 |
1990 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.
|
15880727 |
2005 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.
|
12464284 |
2002 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
|
25595217 |
2015 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
|
20882353 |
2010 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
|
8299883 |
1994 |
Hereditary fructose intolerance syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
|
8071980 |
1994 |
Hereditary fructose intolerance syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
|
23430936 |
2012 |